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Title: | Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions |
Author: | Olivé i Plana, Montserrat Engvall, Martin Ravenscroft, Gianina Cabrera Serrano, Macarena Jiao, Hong Bortolotti, Carlo Augusto Pignataro, Marcello Lambrughi, Matteo Jiang, Haibo Forrest, Alistair R. R. Benseny Cases, Núria Hofbauer, Stefan Obinger, Christian Battistuzzi, Gianantonio Bellei, Marzia Borsari, Marco Di Rocco, Giulia Viola, Helena M. Hoo, Livia C. Cladera, Josep Lagerstedt Robinson, Kristina Xiang, Fengqing Wredenberg, Anna Miralles, Francesc Baiges, Juan José Malfatti, Edoardo Romero, Norma B. Streichenberger, Nathalie Via, Christophe Claeys, Kristl G. Straathof, Chiara S.M Goris, An Freyer, Christoph Lammens, Martin Bassez, Guillaume Kere, Juha Clemente, Paula Sejersen, Thomas Udd, Bjarne Vidal, Noemí Ferrer, Isidro (Ferrer Abizanda) Edstrom, Lars Wedell, Anna Laing, Nigel G. |
Keywords: | Malalties musculars Mutació (Biologia) Muscular Diseases Mutation (Biology) |
Issue Date: | 1-Jan-2019 |
Publisher: | Nature Publishing Group |
Abstract: | Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O-2, facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. Here, we identify a recurrent c.292C>T ( p.His98Tyr) substitution in MB in fourteen members of six European families suffering from an autosomal dominant progressive myopathy with highly characteristic sarcoplasmic inclusions in skeletal and cardiac muscle. Myoglobinopathy manifests in adulthood with proximal and axial weakness that progresses to involve distal muscles and causes respiratory and cardiac failure. Biochemical characterization reveals that the mutant myoglobin has altered O-2 binding, exhibits a faster heme dissociation rate and has a lower reduction potential compared to wild-type myoglobin. Preliminary studies show that mutant myoglobin may result in elevated superoxide levels at the cellular level. These data define a recognizable muscle disease associated with MB mutation. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41467-019-09111-2 |
It is part of: | Nature Communications, 2019-01-01, Vol. 10, num. 1396 |
URI: | http://hdl.handle.net/2445/171596 |
Related resource: | https://doi.org/10.1038/s41467-019-09111-2 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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OliveM.pdf | 2.7 MB | Adobe PDF | View/Open |
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